A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6418983



Internal ID21076536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48591722..48594581hg38UCSC Ensembl
chr8:49504282..49507141hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg382860
hg192860
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18231137
Samples
Known GenesLOC101929268
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6418983
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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